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Institut für Humangenetik der Universitätsmedizin Göttingen Institut für Humangenetik der Universitätsmedizin Göttingen
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Archives

Author Archive for: "KB"
Home » Archiv für KB
By KB
In Gene of the Month
Posted 3. June 2025

Gene of the Month – May: CPS1

Researchers have developed a pioneering, specific, personalized gene therapy for a newborn with a rare and life-threatening urea cycle metabolism disorder. This has been reported in the New [...]

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By KB
In Gene of the Month
Posted 2. May 2025

Gene of the Month – April: SLC7A11

SLC7A11 enables a slow proton efflux from lysosomes and thus plays a vital role in maintaining the acidic environment inside these cellular organelles. This has been demonstrated by a new study [...]

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By KB
In News, Research
Posted 9. April 2025

Identified heterozygous truncating SEC24C variants affect protein transport and glycosylation and cause previously undescribed syndrome with epilepsy, cataracts and anemia

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By KB
In Gene of the Month
Posted 1. April 2025

Gene of the Month – March – MED16

Researchers have uncovered a novel neurodevelopmental disorder featuring multiple congenital anomalies that is linked to variants in the MED16 gene. Published in the American Journal of Human [...]

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0
By KB
In
Posted 27. March 2025

InsightRP2

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By KB
In News, Research
Posted 17. March 2025

InsightRP2: First global patient registry for RP2-associated retinitis pigmentosa starts at UMG

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By KB
In Gene of the Month
Posted 3. March 2025

Gene of the Month – February: PCSK9

Silencing the PCSK9 gene through epigenetic editing may be a novel and promising future strategy to treat hypercholesterolemia. In a study published in Nature Medicine, researchers describe the [...]

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By KB
In Gene of the Month
Posted 30. January 2025

Gene of the Month – January: OSM

The pivotal role of the oncostatin M (OSM) protein in hematopoiesis in humans is underscored by a recent study published in the Journal of Clinical Investigation. Researchers investigated three [...]

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By KB
In Gene of the Month
Posted 6. January 2025

Gene of the Month – December: IL-23R

Researchers have identified IL-23R as an aging and cellular senescence biomarker and a potential target for future strategies to counteract aging-associated conditions. The authors of a study [...]

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By KB
In Gene of the Month
Posted 3. December 2024

Gene of the Month – November: PNUTS

A central, previously unknown role of the PNUTS complex in gene transcription depending on RNA polymerase II has been uncovered. According to a study published in Molecular Cell, the PNUTS [...]

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